Newly recognized ectrodactyly/deafness syndrome

J Craniofac Genet Dev Biol. 1989;9(2):121-7.

Abstract

A 7-year-old non-Ashkenazi Jewish girl is described having asymmetrical ectrodactyly (split hand and foot deformity), short stature, mental retardation, sensorineural deafness, and abnormal facies. Because this constellation of findings has not been reported previously, the authors believe that this represents a new congenital malformation syndrome, most probably of genetic etiology.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Child
  • Diagnosis, Differential
  • Ectodermal Dysplasia / diagnosis
  • Face / abnormalities
  • Female
  • Foot Deformities, Congenital / diagnosis*
  • Foot Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / diagnosis*
  • Hand Deformities, Congenital / diagnostic imaging
  • Hearing Loss, Sensorineural / congenital*
  • Humans
  • Pedigree
  • Radiography
  • Syndrome